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2. The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test
作者：Alexia Boizot (1) (2)
Yasmina Talmat-Amar (1) (2)
Deborah Morrogh (3)
Nancy L Kuntz (4)
Cecile Halbert (5)
Brigitte Chabrol (5)
Henry Houlden (6)
Tanya Stojkovic (7)
Brenda A Schulman (8)
Bernd Rautenstrauss (10) (9)
Pascale Bomont (1) (2)

1. Atip-Avenir team ; Inserm U1051 ; Institut des Neurosciences de Montpellier ; Montpellier ; France
2. Universit茅 de Montpellier1&2 ; Montpellier ; France
3. NE Thames Regional Genetics Service ; Great Ormond Street Hospital ; York House Queen Square ; London ; UK
4. Northwestern University Feinberg School of Medicine ; Chicago ; USA
5. Service de Neurologie P茅diatrique ; H么pital d鈥橢nfants ; CHU Timone ; Marseille ; France
6. Department of Molecular Neuroscience and The MRC centre for Neuromuscular Diseases ; Institute of Neurology ; Queen Square ; London ; UK
7. AP-HP ; G-H Piti茅-Salp锚tri猫re ; Institut de Myologie ; Paris ; France
8. Howard Hughes Medical Institute ; Department of Structural Biology ; St. Jude Children鈥檚 Research Hospital ; Memphis ; Tennessee ; USA
10. Ludwig-Maximilians-University Friedrich-Baur-Institut ; M眉nchen ; Germany
9. Medizinisch Genetisches Zentrum Bayerstrasse ; M眉nchen ; Germany
刊名：Acta Neuropathologica Communications
出版年：2014
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